Causes of Tay Sachs
Tay Sachs Causes: Book Excerpts
What causes Tay Sachs?
Causes: Tay Sachs:
Genetic defect in hexosaminidase A leads to fatty deposits of ganglioside GM2 accumulate in the brain's nerve cells.
Related information on causes of Tay Sachs:
As with all medical conditions,
there may be many causal factors.
Further relevant information on causes of Tay Sachs may be found in:
Causes of Tay Sachs: Online Medical Books
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Review excerpts from medical books online, free, without registration,
for more information about the causes of Tay Sachs.
Tay-Sachs disease:
Causes and incidence
(Professional Guide to Diseases (Eighth Edition))
Tay-Sachs disease (also known as GM2 gangliosidosis) is an autosomal recessive disorder of chromosome 15 in which the enzyme hexosaminidase A is virtually absent or deficient. This enzyme is necessary for metabolism of gangliosides, water-soluble glycolipids found primarily in central nervous system (CNS) tissues. Without hexosaminidase A, accumulating lipid pigments distend and progressively destroy and demyelinate CNS cells.
Tay-Sachs disease appears in fewer than 100 neonates born each year in the United States. However, about it's 100 times more common in persons of Eastern European Jewish (Ashkenazi) ancestry than in the general population, occurring in about l in 3,600 live births in this ethnic group. About 1 in 30 Ashkenazi Jews, French Canadians, and American Cajuns are heterozygous carriers. If two such carriers have children, each of their offspring has a 25% chance of having Tay-Sachs disease.
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Source: Professional Guide to Diseases (Eighth Edition), 2005
Arterial Pulse Variants:
Differential Overview
(Field Guide to Bedside Diagnosis)
Phenomena
❑ Irregularly irregular pulse
❑ Asymmetric pulses
❑ Bounding pulse
❑ Bisferiens pulse
❑ Bigeminal pulse
❑ Pulsus alternans
❑ Pulsus paradoxus
❑ Thready pulse
❑ Pulsus parvus et tardus
❑ Narrow pulse pressure
» READ BOOK EXCERPT ONLINE »
Source: Field Guide to Bedside Diagnosis, 2007
Jugular Pulse Variants:
Differential Overview
(Field Guide to Bedside Diagnosis)
Phenomena
❑ Elevated jugular venous pressure
❑ Low jugular venous pressure
❑ Kussmaul sign
❑ Giant a waves
❑ Cannon a waves
❑ Prominent v wave
❑ Flutter waves
❑ Precipitous x descent
❑ Prominent y descent
❑ Slow y descent
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Source: Field Guide to Bedside Diagnosis, 2007
Pneumonia Variants:
Differential Overview
(Field Guide to Bedside Diagnosis)
❑ Streptococcus pneumoniae
❑ Mycoplasma pneumoniae
❑ Haemophilus influenzae
❑ Chlamydia pneumoniae
❑ Influenza virus
❑ Staphylococcus aureus
❑ Mycobacterium tuberculosis
❑ Legionella pneumophila
❑ Klebsiella pneumoniae
❑ Pneumocystis carinii
❑ Chlamydia psittaci
❑ Severe Acute Respiratory Syndrome (SARS)
❑ Hantavirus
» READ BOOK EXCERPT ONLINE »
Source: Field Guide to Bedside Diagnosis, 2007
Tay-Sachs disease:
Causes
(Handbook of Diseases)
Tay-Sachs disease (also known as GM2 gangliosidosis) is an autosomal recessive disorder in which the enzyme hexosaminidase A is virtually absent or deficient. This enzyme is necessary for metabolism of gangliosides, water-soluble glycolipids found primarily in central nervous system (CNS) tissues. Without hexosaminidase A, accumulating lipid pigments distend and progressively destroy and demyelinate CNS cells.
Tay-Sachs disease strikes persons of Eastern European Jewish (Ashkenazi) ancestry more often than the general population, occurring in about 1 in 2,500 live births in this ethnic group. About 1 in 25 Ashkenazi Jews are heterozygous carriers.
» READ BOOK EXCERPT ONLINE »
Source: Handbook of Diseases, 2003
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